Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.D261N
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IRF6

NM_006147.4:p.D261N

Associated Papers

Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.

Liu H et al.

Human Molecular Genetics, 2016

26692521 (PubMed )
Supplement: supp_ddv614_ddv614supp_table2.xlsx › Sheet1

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.

Leslie EJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

23154523 (PubMed )
Supplement: gim2012141x7.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."